Araştırma Makalesi
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Yıl 2022, Cilt: 5 Sayı: 3, 193 - 198, 15.10.2022

Yücel Erbilgin Fulya Küçükcankurt Ozden Hatırnaz Ng Zeynep Karakaş Tiraje Celkan Zeynep Yıldız Yıldırmak Müge Sayitoğlu

Öz

Destekleyen Kurum

Scientific Research Projects Coordination Unit of Istanbul University , Technical Research Council of Turkey-TUBITAK

Proje Numarası

23612, 106S112

Kaynakça

  • 1. Hunger SP, Mullighan CG. Acute Lymphoblastic Leukemia in Children. N Engl J Med. Oct 2015;373(16):1541-52. doi:10.1056/NEJMra1400972
  • 2. Inaba H, Mullighan CG. Pediatric acute lymphoblastic leukemia. Haematologica. 11 01 2020;105(11):2524-2539. doi:10.3324/haematol.2020.247031
  • 3. Pui CH, Evans WE. A 50-year journey to cure childhood acute lymphoblastic leukemia. Semin Hematol. Jul 2013;50(3):185-96. doi:10.1053/j.seminhematol.2013.06.007
  • 4. Girardi T, Vicente C, Cools J, De Keersmaecker K. The genetics and molecular biology of T-ALL. Blood. 03 2017;129(9):1113-1123. doi:10.1182/blood-2016-10-706465
  • 5. Erbilgin Y, Sayitoglu M, Hatirnaz O, et al. Prognostic significance of NOTCH1 and FBXW7 mutations in pediatric T-ALL. Dis Markers. 2010;28(6):353-60. doi:10.3233/DMA-2010-0715
  • 6. Reya T, Duncan AW, Ailles L, et al. A role for Wnt signalling in self-renewal of haematopoietic stem cells. Nature. May 2003;423(6938):409-14. doi:10.1038/nature01593
  • 7. Zhang Y, Zu D, Chen Z, Ying G. An update on Wnt signaling pathway in cancer. Transl Cancer Res. Feb 2020;9(2):1246-1252. doi:10.21037/tcr.2019.12.50
  • 8. Staal FJ, Famili F, Garcia Perez L, Pike-Overzet K. Aberrant Wnt Signaling in Leukemia. Cancers (Basel). Aug 2016;8(9)doi:10.3390/cancers8090078
  • 9. Clevers H, Nusse R. Wnt/β-catenin signaling and disease. Cell. Jun 2012;149(6):1192-205. doi:10.1016/j.cell.2012.05.012
  • 10. Erbilgin Y, Ng OH, Mavi N, Ozbek U, Sayitoglu M. Genetic alterations in members of the Wnt pathway in acute leukemia. Leuk Lymphoma. Mar 2012;53(3):508-10. doi:10.3109/10428194.2011.613133
  • 11. Ng OH, Erbilgin Y, Firtina S, et al. Deregulated WNT signaling in childhood T-cell acute lymphoblastic leukemia. Blood Cancer J. 2014;4:e192. doi:10.1038/bcj.2014.12
  • 12. Zhan T, Rindtorff N, Boutros M. Wnt signaling in cancer. Oncogene. 03 2017;36(11):1461-1473. doi:10.1038/onc.2016.304
  • 13. Behrens J, Jerchow BA, Würtele M, et al. Functional interaction of an axin homolog, conductin, with beta-catenin, APC, and GSK3beta. Science. Apr 24 1998;280(5363):596-9. doi:10.1126/science.280.5363.596
  • 14. Conter V, Bartram CR, Valsecchi MG, et al. Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study. Blood. Apr 2010;115(16):3206-14. doi:10.1182/blood-2009-10-248146
  • 15. Schmittgen TD, Livak KJ. Analyzing real-time PCR data by the comparative C(T) method. Nat Protoc. 2008;3(6):1101-8. doi:10.1038/nprot.2008.73
  • 16. Pinarbasi E, Gunes EG, Pinarbasi H, Donmez G, Silig Y. AXIN2 polymorphism and its association with prostate cancer in a Turkish population. Med Oncol. Dec 2011;28(4):1373-8. doi:10.1007/s12032-010-9588-y
  • 17. Madzio J, Pastorczak A, Sedek L, et al. GATA3 germline variant is associated with CRLF2 expression and predicts outcome in pediatric B-cell precursor acute lymphoblastic leukemia. Genes Chromosomes Cancer. Mar 2019;doi:10.1002/gcc.22748
  • 18. Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 05 2020;581(7809):434-443. doi:10.1038/s41586-020-2308-7
  • 19. Clevers H. Wnt/beta-catenin signaling in development and disease. Cell. Nov 2006;127(3):469-80. doi:10.1016/j.cell.2006.10.018
  • 20. Keller G, Hartmann A, Mueller J, Höfler H. Denaturing high pressure liquid chromatography (DHPLC) for the analysis of somatic p53 mutations. Lab Invest. Dec 2001;81(12):1735-7. doi:10.1038/labinvest.3780387
  • 21. Gunes EG, Pinarbasi E, Pinarbasi H, Silig Y. Strong association between lung cancer and the AXIN2 polymorphism. Mol Med Rep. 2009 Nov-Dec 2009;2(6):1029-35. doi:10.3892/mmr_00000210
  • 22. Liu D, Li L, Yang Y, Liu W, Wu J. The Axin2 rs2240308 polymorphism and susceptibility to lung cancer in a Chinese population. Tumour Biol. Nov 2014;35(11):10987-91. doi:10.1007/s13277-014-2399-6
  • 23. Mostowska A, Pawlik P, Sajdak S, et al. An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population. Mol Diagn Ther. Feb 2014;18(1):85-91. doi:10.1007/s40291-013-0059-y
  • 24. McLeod C, Gout AM, Zhou X, et al. St. Jude Cloud: A Pediatric Cancer Genomic Data-Sharing Ecosystem. Cancer Discov. 05 2021;11(5):1082-1099. doi:10.1158/2159-8290.CD-20-1230
  • 25. Dai F, Zhu LJ, Zhang W, et al. The association between three AXIN2 variants and cancer risk. J Cell Biochem. 09 2019;120(9):15561-15571. doi:10.1002/jcb.28823
  • 26. Kanzaki H, Ouchida M, Hanafusa H, et al. Single nucleotide polymorphism of the AXIN2 gene is preferentially associated with human lung cancer risk in a Japanese population. Int J Mol Med. Aug 2006;18(2):279-84.
  • 27. Li X, Li Y, Liu G, Wu W. New insights of the correlation between AXIN2 polymorphism and cancer risk and susceptibility: evidence from 72 studies. BMC Cancer. Apr 01 2021;21(1):353. doi:10.1186/s12885-021-08092-0
  • 28. Rosales-Reynoso MA, Arredondo-Valdez AR, Wence-Chávez LI, et al. AXIN2 Polymorphisms and Their Association with Colorectal Cancer in Mexican Patients. Genet Test Mol Biomarkers. Aug 2016;20(8):438-44. doi:10.1089/gtmb.2016.0026

AXIN2 Varyasyonları ve T-ALL Riski ile İlişkisi

Yıl 2022, Cilt: 5 Sayı: 3, 193 - 198, 15.10.2022

Yücel Erbilgin Fulya Küçükcankurt Ozden Hatırnaz Ng Zeynep Karakaş Tiraje Celkan Zeynep Yıldız Yıldırmak Müge Sayitoğlu

Öz

Amaç: Bozulmuş WNT sinyal iletisi, T-ALL ve birçok diğer kanserde gösterilmiştir. AXIN2, aktif WNT sinyalinin negatif yönde düzenleyicisidir ve AXIN2 gen varyasyonları artmış kanser riski ile ilişkilendirilmiştir. Bu çalışmada, T-ALL hastalarında AXIN2 varyasyonlarının belirlenmesi ve klinik belirteçlerle birlikte değerlendirilmesi hedeflenmiştir.
Yöntem: Yeni tanı, 32 T-ALL hastası retrospektif olarak çalışmaya dahil edilmiştir. AXIN2 geninin kodlayan bölgeleri PZR ile çoğaltılmış ve sonrasında denatüre edici yüksek performanslı likit kromatografi yöntemi (dHPLC) ile taranmıştır. dHPLC’de farklı kromatogram bulgusuna sahip örnekler Sanger dizileme yöntemi ile değerlendirilmiştir.
Bulgular: Hastaların hiçbirinde patojenik varyant belirlenmemiştir. Bunun yanında, 14 (43,7%) T-ALL hastasında AXIN2 polimorfizmleri, rs2240308/rs1133683/rs9915936 belirlenmiştir. T-ALL hastalarında kontrol örneklerine göre rs2240308 ve rs1133683 varyasyonlarının genotip dağılımları anlamlı farklılık göstermiştir (rs2240308, GG/GA p=0.029; rs1133683, GG/GA p<0.0001). G aleli, her iki polimorfizm için A aleline göre artmış genel T-ALL riski ile ilişkilendirilmiştir. AXIN2 varyasyonu taşıyan ve taşımayan hastalar arasında, klinik belirteçler açısından bir fark gözlenmemiştir.
Sonuç: AXIN2 rs2240308 ve rs1133683 varyasyonlarının varlığı, T-ALL’ye yatkınlık açısından anlamlı düzeyde ilişkili bulunmuştur.

Anahtar Kelimeler

Akut lenfoblastik lösemi AXIN2 varyasyon WNT

Proje Numarası

23612, 106S112

Kaynakça

  • 1. Hunger SP, Mullighan CG. Acute Lymphoblastic Leukemia in Children. N Engl J Med. Oct 2015;373(16):1541-52. doi:10.1056/NEJMra1400972
  • 2. Inaba H, Mullighan CG. Pediatric acute lymphoblastic leukemia. Haematologica. 11 01 2020;105(11):2524-2539. doi:10.3324/haematol.2020.247031
  • 3. Pui CH, Evans WE. A 50-year journey to cure childhood acute lymphoblastic leukemia. Semin Hematol. Jul 2013;50(3):185-96. doi:10.1053/j.seminhematol.2013.06.007
  • 4. Girardi T, Vicente C, Cools J, De Keersmaecker K. The genetics and molecular biology of T-ALL. Blood. 03 2017;129(9):1113-1123. doi:10.1182/blood-2016-10-706465
  • 5. Erbilgin Y, Sayitoglu M, Hatirnaz O, et al. Prognostic significance of NOTCH1 and FBXW7 mutations in pediatric T-ALL. Dis Markers. 2010;28(6):353-60. doi:10.3233/DMA-2010-0715
  • 6. Reya T, Duncan AW, Ailles L, et al. A role for Wnt signalling in self-renewal of haematopoietic stem cells. Nature. May 2003;423(6938):409-14. doi:10.1038/nature01593
  • 7. Zhang Y, Zu D, Chen Z, Ying G. An update on Wnt signaling pathway in cancer. Transl Cancer Res. Feb 2020;9(2):1246-1252. doi:10.21037/tcr.2019.12.50
  • 8. Staal FJ, Famili F, Garcia Perez L, Pike-Overzet K. Aberrant Wnt Signaling in Leukemia. Cancers (Basel). Aug 2016;8(9)doi:10.3390/cancers8090078
  • 9. Clevers H, Nusse R. Wnt/β-catenin signaling and disease. Cell. Jun 2012;149(6):1192-205. doi:10.1016/j.cell.2012.05.012
  • 10. Erbilgin Y, Ng OH, Mavi N, Ozbek U, Sayitoglu M. Genetic alterations in members of the Wnt pathway in acute leukemia. Leuk Lymphoma. Mar 2012;53(3):508-10. doi:10.3109/10428194.2011.613133
  • 11. Ng OH, Erbilgin Y, Firtina S, et al. Deregulated WNT signaling in childhood T-cell acute lymphoblastic leukemia. Blood Cancer J. 2014;4:e192. doi:10.1038/bcj.2014.12
  • 12. Zhan T, Rindtorff N, Boutros M. Wnt signaling in cancer. Oncogene. 03 2017;36(11):1461-1473. doi:10.1038/onc.2016.304
  • 13. Behrens J, Jerchow BA, Würtele M, et al. Functional interaction of an axin homolog, conductin, with beta-catenin, APC, and GSK3beta. Science. Apr 24 1998;280(5363):596-9. doi:10.1126/science.280.5363.596
  • 14. Conter V, Bartram CR, Valsecchi MG, et al. Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study. Blood. Apr 2010;115(16):3206-14. doi:10.1182/blood-2009-10-248146
  • 15. Schmittgen TD, Livak KJ. Analyzing real-time PCR data by the comparative C(T) method. Nat Protoc. 2008;3(6):1101-8. doi:10.1038/nprot.2008.73
  • 16. Pinarbasi E, Gunes EG, Pinarbasi H, Donmez G, Silig Y. AXIN2 polymorphism and its association with prostate cancer in a Turkish population. Med Oncol. Dec 2011;28(4):1373-8. doi:10.1007/s12032-010-9588-y
  • 17. Madzio J, Pastorczak A, Sedek L, et al. GATA3 germline variant is associated with CRLF2 expression and predicts outcome in pediatric B-cell precursor acute lymphoblastic leukemia. Genes Chromosomes Cancer. Mar 2019;doi:10.1002/gcc.22748
  • 18. Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 05 2020;581(7809):434-443. doi:10.1038/s41586-020-2308-7
  • 19. Clevers H. Wnt/beta-catenin signaling in development and disease. Cell. Nov 2006;127(3):469-80. doi:10.1016/j.cell.2006.10.018
  • 20. Keller G, Hartmann A, Mueller J, Höfler H. Denaturing high pressure liquid chromatography (DHPLC) for the analysis of somatic p53 mutations. Lab Invest. Dec 2001;81(12):1735-7. doi:10.1038/labinvest.3780387
  • 21. Gunes EG, Pinarbasi E, Pinarbasi H, Silig Y. Strong association between lung cancer and the AXIN2 polymorphism. Mol Med Rep. 2009 Nov-Dec 2009;2(6):1029-35. doi:10.3892/mmr_00000210
  • 22. Liu D, Li L, Yang Y, Liu W, Wu J. The Axin2 rs2240308 polymorphism and susceptibility to lung cancer in a Chinese population. Tumour Biol. Nov 2014;35(11):10987-91. doi:10.1007/s13277-014-2399-6
  • 23. Mostowska A, Pawlik P, Sajdak S, et al. An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population. Mol Diagn Ther. Feb 2014;18(1):85-91. doi:10.1007/s40291-013-0059-y
  • 24. McLeod C, Gout AM, Zhou X, et al. St. Jude Cloud: A Pediatric Cancer Genomic Data-Sharing Ecosystem. Cancer Discov. 05 2021;11(5):1082-1099. doi:10.1158/2159-8290.CD-20-1230
  • 25. Dai F, Zhu LJ, Zhang W, et al. The association between three AXIN2 variants and cancer risk. J Cell Biochem. 09 2019;120(9):15561-15571. doi:10.1002/jcb.28823
  • 26. Kanzaki H, Ouchida M, Hanafusa H, et al. Single nucleotide polymorphism of the AXIN2 gene is preferentially associated with human lung cancer risk in a Japanese population. Int J Mol Med. Aug 2006;18(2):279-84.
  • 27. Li X, Li Y, Liu G, Wu W. New insights of the correlation between AXIN2 polymorphism and cancer risk and susceptibility: evidence from 72 studies. BMC Cancer. Apr 01 2021;21(1):353. doi:10.1186/s12885-021-08092-0
  • 28. Rosales-Reynoso MA, Arredondo-Valdez AR, Wence-Chávez LI, et al. AXIN2 Polymorphisms and Their Association with Colorectal Cancer in Mexican Patients. Genet Test Mol Biomarkers. Aug 2016;20(8):438-44. doi:10.1089/gtmb.2016.0026
Toplam 28 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Hematoloji
Bölüm Araştırma Makaleleri
Yazarlar

Yücel Erbilgin 0000-0001-6969-6649

Fulya Küçükcankurt 0000-0002-5345-9072

Ozden Hatırnaz Ng 0000-0001-7728-6527

Zeynep Karakaş 0000-0002-8835-3235

Tiraje Celkan 0000-0001-7287-1276

Zeynep Yıldız Yıldırmak 0000-0003-3939-2761

Müge Sayitoğlu 0000-0002-8648-213X

Proje Numarası 23612, 106S112
Yayımlanma Tarihi 15 Ekim 2022
Gönderilme Tarihi 4 Temmuz 2022
Kabul Tarihi 2 Ağustos 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 5 Sayı: 3

Kaynak Göster

AMA Erbilgin Y, Küçükcankurt F, Hatırnaz Ng O, Karakaş Z, Celkan T, Yıldız Yıldırmak Z, Sayitoğlu M. AXIN2 Varyasyonları ve T-ALL Riski ile İlişkisi. Acta Med Nicomedia. Ekim 2022;5(3):193-198.
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